Clara’s Story: Growing Up with Leber’s Congenital Amaurosis

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May 28, 2015

Bubbly and talkative and always willing to make fun of her mom — and be made fun of by her mom in return — Clara Johansen is a typical 12-year-old. She plays piano, is in a debate club, and goes to camp in the summer. She’s not much into team sports, but she’s danced since preschool.

Clara is also legally blind, but she doesn’t seem to dwell on that too much.

“Normal people have 20/20 vision. That means they see what’s at 20 feet at 20 feet,” said Clara, a Twality Middle School sixth-grader. “Mine is either 20/300 or 20/400. So what normal people see at 20 feet, I see at 300 or 400 feet away.”

When Clara was an infant, doctors ran tests to discover if she had Leber’s Congenital Amaurosis, a degenerative vision disease. They thought it was a long shot — there are only about three cases per 100,000 births — but they wanted to at least cross it off the list. As it turned out, Clara did have it, and she had one of the rarest forms.

“It sounded scary, kind of, when you have a little baby and you think about that baby being blind. There’s such a range of blindness out there that you don’t even understand or know what that is. And she was 1, so we didn’t know how much she could see,” said Laura Johansen, Clara’s mom. “You go into the pity party. For us, it wasn’t for terribly long.”

Doing theirpart

Laura and her husband Mark became involved in the blind and visually impaired community, and began learning more and discovering what they could do. The Johansens, who live in Durham, didn’t want to sit idle — they wanted to help make change.

This Sunday, May 17, marks the eighth rendition of Walking with a Vision, which for the last several years has been a biennial tradition run by the Johansen family. This year’s event will be held at Tualatin Community Park. So far, the walk has raised more than $150,000 for the Foundation for Retinal Research, with a goal of raising another $25,000 this year. But for the Johansens, it’s about more than collecting donations.

“Raising awareness for us is way more important than the money,” said Laura. “What I would want people to take away is learning how to treat people who are visually impaired or blind in a way that makes them feel included, and knowing when and when not to step in and help them.”

“There’s a fine line between helping and too much help,” Clara added.

“And people don’t know what that is. If we don’t educate people on how to do that, then I don’t know how they would know,” said Laura. “People don’t just instinctively know. And with the different levels of vision with people, that amount of help is different for different people.”

What is LCA?

Most people living with LCA got the disease because their parents carried a recessive gene, giving their children a one in four chance of getting it. This form of the disease is called autosomal recessive. A very small fraction of people with LCA are autosomal dominant, and Clara is one of these people. Seventeen variations of LCA exist, said Laura, and though strides in research have occurred since her daughter’s diagnosis, she said that none of them apply to Clara’s condition — among those with this already rare disease, Clara’s case is even rarer.

“Right now, still, for hers there’s nothing,” Laura said. “There’s stuff they’re working on, but for her, it’s going to be more stem cell, cell therapy, than it is going to be gene therapy.”

So, from a young age, Clara has learned to read and write in braille in case her vision worsens, though so far it’s remained relatively stable and she can see well enough to read font that’s at least 36 point. However, because papers with large type start to stack up, much of her reading is done on iPad.

TIMES PHOTO: JONATHAN HOUSE – Clara reads a sheet of riddles that are translated into braille.

Still, Clara doesn’t seem concerned by her limitations. She’s starting to walk with a cane to prepare for the days when her parents or older sister Emily aren’t by her side. She’s also bungee jumped. And she’s testified before legislators at the state capital. And she has a story to tell for every occasion.

If Clara is bothered by her disease, she certainly doesn’t look it. She does, however, want the greater public to be more educated about what she, and other blind and visually impaired people, go through every day.

She wants people to see “what it’s like to have what I have and do the things that I do on a daily basis, like doing a worksheet or finding out what time a movie is,” Clara said. “Something with acuity goggles on or a sleep shade to make cereal or whatever, and just seeing what it’s like to do it for five minutes and see how challenging it is, and trying to think about what it would be like to do it every day.”

And for the Johansens, while getting through the day might come with some hardships and accommodations, it also comes with a heavy dose of laughter. This is a family that’s able to find humor in most things, because as they said, you just have to. This reality clearly presented itself when they discussed why Clara’s never been much into sports.

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